Detection of a novel gross deletion in the UNC13D gene ends the diagnostic odyssey for a family with familial hemophagocytic lymphohistiocytosis 3
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Published in BMC pediatrics (11.01.2024)
Published in BMC pediatrics (11.01.2024)
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Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl
Dharmadhikari, Avinash V., Pereira, Elaine M., Andrews, Carli C ., Macera, Michael, Harkavy, Nina, Wapner, Ronald, Jobanputra, Vaidehi, Levy, Brynn, Ganapathi, Mythily, Liao, Jun
Published in Frontiers in genetics (19.07.2022)
Published in Frontiers in genetics (19.07.2022)
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P775: Maternally inherited 11p15 duplication involving only part of the ICR1 H19/IGF2 domain: Unraveling mild Russell-Silver syndrome phenotype
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Published in Genetics in Medicine Open (2024)
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P765: Decoding parental reporting preferences from genome sequencing in the presence or absence of a fetal ultrasound phenotype
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Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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eP496 - Follow-up of an abnormal NIPS result (T13) leads to identification of mosaic 13q31.1q34 tetrasomy associated with a neocentromeric sSMC
Dharmadhikari, Avinash, Pereira, Elaine, Harkavy, Nina, Andrews, Carli C., Jobanputra, Vaidehi, Wapner, Ronald, Levy, Brynn, Ganapathi, Mythily, Liao, Jun
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
Follow-up of an abnormal NIPS result (T13) leads to identification of mosaic 13q31.1q34 tetrasomy associated with a neocentromeric sSMC
Dharmadhikari, Avinash, Pereira, Elaine, Harkavy, Nina, Andrews, Carli C., Jobanputra, Vaidehi, Wapner, Ronald, Levy, Brynn, Ganapathi, Mythily, Liao, Jun
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected Girl
Dharmadhikari, Avinash V, Pereira, Elaine M, Andrews, Carli C, Macera, Michael, Harkavy, Nina, Wapner, Ronald, Jobanputra, Vaidehi, Levy, Brynn, Ganapathi, Mythily, Liao, Jun
Published in Frontiers in genetics (01.01.2022)
Published in Frontiers in genetics (01.01.2022)
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